Table 1.
Clinical findings in family members with the KIF5A mutation
| I:2 | II:1 | II:4 | II:5 | II:6 | III:1 | III:4 | III:5 | III:7 | III:8 | III:10 | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Sex | F | F | M | F | M | F | M | F | M | M | M |
| Age at examination | 77 | 58 | 54 | 49 | 43 | 40 | 31 | 28 | 25 | 21 | 19 |
| Age at onset* | 55 | 49 | 51 | 39 | 36 | 32 | 26 | 18 | 21 | 16 | 12 |
| Disease duration (years) | 22 | 9 | 3 | 10 | 7 | 8 | 5 | 10 | 4 | 5 | 7 |
| Disability stage† | 2 | 2 | 2 | 3 | 2 | 3 | 3 | 4 | 3 | 3 | 3 |
| SPRS‡ | 14 | 16 | 16 | 21 | 18 | 25 | 26 | 38 | 26 | 25 | 28 |
| LL pyramidal weakness | + | + | + | + | + | ++ | ++ | ++ | ++ | ++ | ++ |
| LL hyper-reflexia | + | + | ++ | ++ | + | + | ++ | ++ | ++ | ++ | ++ |
| LL spasticity | + | + | + | + | + | ++ | + | ++ | ++ | + | ++ |
| Babinski reflex | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ |
| Pes cavus | − | − | − | − | − | − | − | + | − | − | − |
| Sensory deficits | + | − | + | − | − | + | − | + | − | − | − |
| VV | R/L | R/L | L | R/L | R/L | R/L | L | R | R/L | L | R/L |
| VV stage§ (affected or worst side) | C2 | C2 | C4a | C2 | C2 | C6 | C4b | C4a | C3 | C3 | C2 |
| Bilateral DD | + | + | + | + | + | + | + | + | + | + | + |
| DD stage¶ (worst side) | 1 | 1 | 2 | N | 1 | 3 | 3 | 2 | 4 | 3 | 3 |
| Sphincter disturbances | + | + | + | − | + | + | − | + | + | − | − |
*Age at onset was calculated approximately as the time when difficulty in walking first appeared in the affected individuals.
†Disability stages: 1, no mobility problems or slight stiffness of the legs; 2, moderate gait stiffness; 3, problems running, but able to walk alone; 4, problems walking; 5, wheelchair user.
‡SPRS, Spastic Paraplegia Rating Scale.2
§Clinical section from CEAP classification of chronic venous disease4: C0, no visible or palpable signs of venous disease; C1, telangiectasies or reticular veins; C2, varicose veins; C3, oedema; C4a, pigmentation or eczema; C4b, lipodermatosclerosis or atrophie blanche; C5, healed venous ulcer; C6, active venous ulcer.
¶Tubiana classification5: 0, no lesion; N, palmar nodule without the presence of contracture; 1, TFD between 0° and 45°; 2, TFD between 45° and 90°; 3, TFD between 90° and 135°; 4, TFD greater than 135°.
+ and −, indicate the presence and absence of a feature, respectively; DD, Dupuytren's disease; F, female; L, left leg; LL, lower limbs; M, male; R, right leg; TFD, total flexion deformity; VV, varicose veins.